Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
Total = all mutations for this gene across every source.
Cell line = COSMIC Cell Lines Project + DepMap + PubMed.
Tissue = COSMIC primary-tissue (patient tumour) samples.
Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 3,816 | 415 | 3,312 |
| Samples | 787 | 198 | 560 |
| Peptides | 612 | 102 | 539 |
Function
IKZF1 · IKAROS family zinc finger 1
This gene encodes a transcription factor that belongs to the family of zinc-finger DNA-binding proteins associated with chromatin remodeling. The expression of this protein is restricted to the fetal and adult hemo-lymphopoietic system, and it functions as a regulator of lymphocyte differentiation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. Most isoforms share a common C-terminal domain, which contains two zinc finger motifs that are required for hetero- or homo-dimerization, and for interactions with other proteins. The isoforms, however, differ in the number of N-terminal zinc finger motifs that bind DNA and in nuclear localization signal presence, resulting in members with and without DNA-binding properties. Only a few isoforms contain the requisite three or more N-terminal zinc motifs that confer high affinity binding to a specific core DNA sequence element in the promoters of target genes. The non-DNA-binding isoforms are largely found in the cytoplasm, and are thought to function as dominant-negative factors. Overexpression of some dominant-negative isoforms have been associated with B-cell malignancies, such as acute lymphoblastic leukemia (ALL). [provided by RefSeq, May 2014].
Isoforms & Proteins
11 transcripts · UniProt mapping is sequence-verified (AA-safe)
Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.
The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.
Counts are mutations and unique mutant peptides on each transcript.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000331340 | Q13422 | 862 | 429 |
| ENST00000359197 | Q13422-7 | 608 | 360 |
| ENST00000438033 | Q13422-2 | 583 | 334 |
| ENST00000439701 | Q13422-7 | 569 | 340 |
| ENST00000615491 | A0A087WU46* | 386 | 216 |
| ENST00000346667 | A0A0A0MRA0* | 288 | 167 |
| ENST00000698575 | Q13422-5 | 253 | 137 |
| ENST00000413698 | C9JTB0* | 121 | 77 |
| ENST00000492782 | A0A2R8Y4D3* | 72 | 47 |
| ENST00000646110 | A0A2R8Y4D3* | 72 | 47 |
| ENST00000698573 | A0A8V8TMF3* | 2 | 2 |
Gene Properties
Recurrent Mutations
All 429 amino-acid changes on canonical ENST00000331340 · needle height = samples · drag the mini-map to zoom
A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).
X-axis = amino-acid position in the protein.
Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.
The most recurrent changes are labelled; hover any needle for the change, position and counts.
Mutation frequency across cancer types
% of samples with a missense/complex mutation in IKZF1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in IKZF1 – counted as distinct samples (a sample counts once no matter how many mutations it has).
Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.
| Cancer type | Cell lines | Tissue samples |
|---|---|---|
| T-Lymphoblastic Leukemia | 15/40 38% | 0/0 0% |
| Chronic Myelogenous Leukemia | 4/25 16% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 3/26 12% | 0/0 0% |
| Melanoma | 18/210 9% | 101/1899 5% |
| Acute Myeloid Leukemia | 5/90 6% | 0/0 0% |
| Glioblastoma | 5/98 5% | 0/0 0% |
| Chordoma | 1/7 14% | 0/13 0% |
| Endometrial Carcinoma | 7/42 17% | 23/612 4% |
| Other Solid Cancers | 3/94 3% | 64/1515 4% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 26/304 9% | 35/1390 3% |
| Biliary Tract Carcinoma | 1/54 2% | 34/950 4% |
| Cervical Carcinoma | 5/35 14% | 8/422 2% |
| Unknown | 1/10 10% | 0/29 0% |
| Burkitts Lymphoma | 5/32 16% | 0/196 0% |
| Colorectal Carcinoma | 19/143 13% | 49/3239 2% |
| Gastric Carcinoma | 3/74 4% | 34/1809 2% |
| Osteosarcoma | 2/45 4% | 2/166 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 14/810 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 13/752 2% |
| Ewings Sarcoma | 3/63 5% | 2/262 1% |
| Head and Neck Carcinoma | 4/85 5% | 20/1574 1% |
| Bladder Carcinoma | 2/58 3% | 11/956 1% |
| Non-Cancerous | 6/104 6% | 5/830 1% |
| Plasma Cell Myeloma | 2/44 5% | 2/305 1% |
| Hepatocellular Carcinoma | 3/46 7% | 21/2210 1% |
| Esophageal Carcinoma | 2/23 9% | 6/769 1% |
| Rhabdomyosarcoma | 2/33 6% | 0/171 0% |
Mutation Distribution
Where IKZF1 is mutated · all tissues, split by cell line vs tissue
How many mutations in IKZF1 were found in each tissue, across the whole database.
Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.
This shows the cancer-context where this gene is recurrently altered.
GTEx Expression
Median TPM across 54 healthy tissues
Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.
Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.
Scroll or drag the mini-axis below the chart to browse all tissues.
Mutations
All 3,816 mutations in IKZF1
Every mutation record for this gene, across all samples and sources.
The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).
Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|